title: MBL2 polymorphisms - manifestations in Bulgarian patients with adult dermatomyositis and systemic lupus erythematosus.
abstract: Deficiency in some complement factors is known to cause both systemic lupus erythematosus (SLE) and dermatomyositis (DM). Mannose-binding lectin (MBL) is a recognition molecule of the lectin pathway, and its low levels are reported to influence some autoimmune diseases. Furthermore, MBL2 polymorphisms have been described associated with low MBL serum levels due to impaired MBL structure and function. This is a pilot study to investigate the role of MBL2-550G/C (H/L), -221G/C (Y/X), Arg52Cys (D), Gly54Asp (B), Gly57Glu (C) polymorphisms and MBL serum levels as a risk factor for a development of adult DM and SLE in Bulgarian patients. None of the studied MBL2 polymorphisms appeared associated with the diseases investigated. However, we have found an increased OR of MBL2-221XY genotype in the patients with SLE (OR 1.64, 95%CI 0.77-3.52). MBL2 polymorphisms seemed to affect MBL serum levels and to be associated with the clinical features although none of the associations remained statistically significant after Bonferroni correction. The-550L allele showed an association with electromyography findings in patients with DM. The-221XY genotype was associated with photosensitivity in patients with SLE. The 54AB genotype showed an association with malar rash in patients with SLE, but it appeared decreased among SLE patients with ANA. In conclusion, our results suggest that the MBL2 polymorphisms have rather a disease modifying role and they are not associated with the disease susceptibility in adult DM and SLE among Bulgarian patients.
authors.affiliation: Department of Clinical Laboratory and Clinical Immunology, Medical University-Sofia, Sofia, Bulgaria.
authors.forename: M
authors.initials: M
authors.lastname: Hristova
authors.forename: L
authors.initials: L
authors.lastname: Dourmishev
authors.forename: Z
authors.initials: Z
authors.lastname: Kamenarska
authors.forename: L
authors.initials: L
authors.lastname: Miteva
authors.forename: A
authors.initials: A
authors.lastname: Vinkov
authors.forename: R
authors.initials: R
authors.lastname: Kaneva
authors.forename: V
authors.initials: V
authors.lastname: Mitev
authors.forename: A
authors.initials: A
authors.lastname: Savov
mesh_terms: D000328:Adult; D000483:Alleles; D002031:Bulgaria; D016022:Case-Control Studies; D003882:Dermatomyositis / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000235:genetics*; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin